Product Details

SNP ID
rs146640044
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:34518134 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGGCCTCCTGGTCTGGATAATTT[C/T]TGGCTTAGGTCTCCTCATTCTTTCC
Phenotype
MIM: 176261 MIM: 602917
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KCNE1 PubMed Links

Gene Details

Gene
KCNE1
Gene Name
potassium voltage-gated channel subfamily E regulatory subunit 1
There are no transcripts associated with this gene.

Gene
RCAN1
Gene Name
regulator of calcineurin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001285389.2 626 Missense Mutation AAA,GAA K156E NP_001272318.1
NM_001285391.2 626 Missense Mutation AAA,GAA K262E NP_001272320.2
NM_001285392.2 626 Missense Mutation AAA,GAA K102E NP_001272321.1
NM_001285393.2 626 Missense Mutation AAA,GAA K102E NP_001272322.1
NM_004414.6 626 Missense Mutation AAA,GAA K237E NP_004405.3
NM_203417.2 626 Missense Mutation AAA,GAA K102E NP_981962.1
NM_203418.2 626 Missense Mutation AAA,GAA K182E NP_981963.1
XM_005260929.1 626 Intron XP_005260986.1
XM_005260930.1 626 Intron XP_005260987.1
XM_017028282.1 626 Intron XP_016883771.1
XM_017028283.1 626 Missense Mutation AAA,GAA K262E XP_016883772.1

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